Multiple Congenital Abnormalities

Congenital Abnormalities and Multiple Sclerosis

BACKGROUND There is a strong maternal parent-of-origin effect in determining susceptibility to multiple sclerosis (MS). One hypothesis is that an abnormal intrauterine milieu leading to impaired fetal development could plausibly also result in increased susceptibility to MS. A possible marker for this intrauterine insult is the presence of a non-fatal congenital anomaly. METHODS We investigat...

Congenital urogenital abnormalities in children with congenital hypothyroidism

Background: Congenital hypothyroidism (CH), as one of the most common congenital endocrine disorders, may be significantly associated with congenital malformations. This study investigates urogenital abnormalities in children with primary CH (PCH). Methods: This case-control study was conducted on 200 children aged three months to 1 year, referred to Amir-Kabir Hospital, Arak, Iran. One hund...

Congenital Abnormalities

A human ring D chromosome associated with multiple congenital abnormalities.

239 sulted in 2 normal living children. The 3rd pregnancy resulted in a spontaneous abortion. Her last pregnancy at the age of 29 years resulted in a child with Down's syndrome. The child had 47 chromosomes with trisomy 21. The patient also has 47 chromosomes with a triple X karyotype. About 200% of her buccal cells contain 2 chromatin bodies. The patient's husband is physically and mentally no...

Empirical recurrence risk after unidentified multiple congenital abnormalities.

Thirty-five fetal deaths (30.4%) and 12 cases of congenital abnormality (15.0%) occurred in 117 subsequent pregnancies and 80 sibs of 112 consultands who had babies with unidentified multiple congenital abnormalities after genetic counselling. The specific recurrence risk of unidentified multiple congenital abnormalities was 5%.